Discovery of breast cancer risk genes and establishment of a prediction model based on estrogen metabolism regulation.

ABSTRACT:

Background

Multiple common variants identified by genome-wide association studies have shown limited evidence of the risk of breast cancer in Chinese individuals. In this study, we aimed to uncover the relationship between estrogen levels and the genetic polymorphism of estrogen metabolism-related enzymes in breast cancer (BC) and establish a risk prediction model composed of estrogen-metabolizing enzyme genes and GWAS-identified breast cancer-related genes based on a polygenic risk score.

Methods

Unrelated BC patients and healthy subjects were recruited for analysis of estrogen levels and single nucleotide polymorphisms (SNPs) in genes encoding estrogen metabolism-related enzymes. The polygenic risk score (PRS) was used to explore the combined effect of multiple genes, whic

SUBMITTER: Zhao F 

PROVIDER: S-EPMC7905915 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature